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https://www.readbyqxmd.com/read/27924661/sleep-disordered-breathing-in-pregnancy-the-maternal-and-fetal-implications
#1
Shanthi Carnelio, Adam Morton, H David McIntyre
Sleep disordered breathing (SDB) which includes obstructive sleep apnoea (OSA) and upper airway resistance syndrome (UARS), has emerged as a risk factor for adverse maternal-foetal outcomes in pregnancy. Physiological changes of pregnancy predispose a woman 'at risk' towards developing SDB. The increasing incidence of OSA in pregnancy closely correlates with the population trends of obesity. Common screening tools validated in non-pregnant subjects including Epworth Sleepiness Scale (ESS) and Berlin Questionnaire (BQ) are poor predictors of SDB in pregnancy...
December 7, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27923540/fetal-cytomegalovirus-infection
#2
REVIEW
Marianne Leruez-Ville, Yves Ville
Cytomegalovirus (CMV) congenital infection affects 0.7% of live births worldwide and is the leading cause of congenital neurological handicap of infectious origin. However, systematic screening for this infection has not been implemented in pregnancy or at birth in any country. This apparent paradox had been justified by persisting gaps in the knowledge of this congenital infection: uncertain epidemiological data, difficulty in the diagnosis of maternal infection, absence of validated prenatal prognostic markers, unavailability of an efficient vaccine and scarcity of data available on the treatment...
October 20, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27921076/yeast-2-hybrid-data-file-showing-progranulin-interactions-in-human-fetal-brain-and-bone-marrow-libraries
#3
Irmgard Tegeder
Progranulin deficiency in humans is associated with neurodegeneration. Its mechanisms are not yet fully understood. We performed a Yeast-2-Hybrid screen using human full-length progranulin as bait to assess the interactions of progranulin. Progranulin was screened against human fetal brain and human bone marrow libraries using the standard Matchmaker technology (Clontech). This article contains the full Y2H data table, including blast results and sequences, a sorted table according to selection criteria for likely positive, putatively positive, likely false and false preys, and tables showing the gene ontology terms associated with the likely and putative preys of the brain and bone marrow libraries...
December 2016: Data in Brief
https://www.readbyqxmd.com/read/27920020/repeated-failed-non-invasive-prenatal-testing-in-a-woman-with-immune-thrombocytopenia-and-antiphospholipid-syndrome-lessons-learnt
#4
C Y Y Hui, W C Tan, E L Tan, L K Tan
We present a case of a 37-year-old Chinese woman (gravida 4 para 0) with a history of immune thrombocytopenia and type IIb antiphospholipid syndrome. She was started on 100 mg of aspirin, 20 mg of prednisolone and 20 mg of subcutaneous low-molecular-weight heparin daily for her fourth pregnancy. She opted for non-invasive prenatal testing for aneuploidy screening but had failed results three times consecutively from insufficient fetal cfDNA initially or high variance in cfDNA counts on redraws. She declined invasive karyotyping...
December 5, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27915499/first-trimester-contingent-screening-for-trisomies-21-18-13-is-this-model-cost-efficient-and-feasible-in-pubblic-health-system
#5
Enrico Colosi, Valentina D'Ambrosio, Enrico Periti
PURPOSE: To evaluate the effectiveness of three different first trimester screening models for trisomies 21, 18 and 13, in terms of detection rate, invasive test rate and final costs. MATERIAL AND METHODS: We analyzed the distribution of risk for trisomies 21, 18 and 13 in a population of 20.831 singleton pregnancies based on maternal age, fetal heart rate, nuchal translucency, free beta human chorionic gonadotropin and pregnancy associated plasma protein A (Combined test)...
December 5, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27913926/maxillary-length-in-euploid-and-aneuploid-fetuses
#6
Markus Hoopmann, Jiri Sonek, Dominik Goldschmid, Philipp Wagner, Harald Abele, Karl Oliver Kagan
PURPOSE: To examine the maxillary length of euploid and aneuploid fetuses in the second and third trimester. METHODS: Retrospective study utilizing stored 2D images of second and third trimester fetal profiles obtained at the University of Tuebingen, Germany. The length of the maxilla was measured as a straight line between the anterior ventral and posterior ventral edges of the maxilla. RESULTS: The study population consisted of 347 euploid fetuses and 122, 36, 5, 8, and 4 fetuses with trisomy 21, 18, and 13, Turner syndrome, and triploidy...
December 2, 2016: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/27913752/expression-and-bioactivity-of-human-alpha-fetoprotein-in-a-bac-to-bac-system
#7
Bo Lin, Kun Liu, Wenting Wang, Wei Li, Xu Dong, Yi Chen, Yan Lu, Junli Guo, Mingyue Zhu, Mengsen Li
Alpha-fetoprotein (AFP) is an early serum growth factor in fetal embryonic development and hepatic oncogenesis. A growing number of investigations of AFP as a tumor-specific biomarker have concluded that AFP is an important target for cancer treatment. AFP also plays an immunomodulatory role in the treatment of several autoimmune diseases, such as rheumatoid arthritis, multiple sclerosis, myasthenia gravis, and thyroiditis. In an effort to support biochemical screening and drug design and discovery, we attempted to express and purify human AFP in a Bac-to-Bac system...
December 2, 2016: Bioscience Reports
https://www.readbyqxmd.com/read/27909773/magnetic-resonance-imaging-of-fetal-pelvic-cysts
#8
REVIEW
Styliani Archontaki, Yvan Vial, Sylviane Hanquinet, Reto Meuli, Leonor Alamo
The detection of fetal anomalies has improved in the last years as a result of the generalization of ultrasound pregnancy screening exams. The presence of a cystic imaging in the fetal pelvis is a relatively common finding, which can correspond to a real congenital cystic lesion or result from the anomalous liquid accumulation in a whole pelvic organ, mainly the urinary bladder, the uterus, or the vagina. In selected cases with poor prognosis and/or inconclusive echographic findings, magnetic resonance may bring additional information in terms of the characterization, anatomical location, and real extension of the pathology...
December 1, 2016: Abdominal Radiology
https://www.readbyqxmd.com/read/27904846/complete-congenital-heart-block-in-a-neonate-with-a-complex-congenital-heart-defect-in-africa
#9
Clovis Nkoke, Edvine Yonta Wawo, Liliane Kuate Mfeukeu, Larissa Makamte, Sandrine Dikosso Edie, Flore Esiene Balana
Congenital heart block (CHB) is rare disorder that has a higher mortality when associated with structural congenital heart defects. Very few cases have been reported in Sub-Saharan Africa (SSA). We present a case of complete CHB associated with a complex congenital heart defect in a neonate in Cameroon. A 1-month-old neonate in Cameroon was referred for the evaluation of bradycardia. The obstetrical ultrasound done during pregnancy revealed fetal bradycardia without further evaluation. Clinical examination showed well a developed neonate with bradycardia at 62 beats/minute, and mild cyanosis with oxygen saturation at 93% at room air...
October 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/27900229/patient-perception-of-negative-noninvasive-prenatal-testing-results
#10
A Theresa Wittman, S Shahrukh Hashmi, Hector Mendez-Figueroa, Salma Nassef, Blair Stevens, Claire N Singletary
Objective To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result. Introduction Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA from the mother's blood to assess for aneuploidy. NIPT has much higher detection rates and positive predictive values than previous methods however, NIPT is not diagnostic. Past studies have demonstrated that patients may underestimate the limitations of prenatal screening; however, patient perception of NIPT has not yet been assessed...
October 2016: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/27896286/aneuploidy-screening-using-circulating-fetal-cells-in-maternal-blood-by-dual-probe-fish-protocol-a-prospective-feasibility-study-on-a-series-of-172-pregnant-women
#11
Giuseppe Calabrese, Donatella Fantasia, Melissa Alfonsi, Elisena Morizio, Claudio Celentano, Paolo Guanciali Franchi, Giulia Sabbatinelli, Chiara Palka, Peter Benn, Gianmaria Sitar
BACKGROUND: A long sought goal in medical genetics has been the replacement of invasive procedures for the detection of chromosomal aneuploidies by isolating and analyzing fetal cells or free fetal DNA from maternal blood, avoiding risk to the fetus. However, a rapid, simple, consistent, and low-cost procedure suitable for routine clinical practice has not yet been achieved. The purpose of this study was to assess the feasibility of predicting fetal aneuploidy by applying our recently established dual-probe FISH protocol to fetal cells isolated and enriched from maternal blood...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896246/quantitative-fluorescent-polymerase-chain-reaction-for-rapid-prenatal-diagnosis-of-fetal-aneuploidies-in-chorionic-villus-sampling-in-a-single-institution
#12
You Jung Shin, Jin Hoon Chung, Do Jin Kim, Hyun Mee Ryu, Moon Young Kim, Jung Yeol Han, June Seek Choi
OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) for conventional cytogenetic analysis were included, and the results of these two methods were compared...
November 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27895323/elevated-cyp2c19-expression-is-associated-with-depressive-symptoms-and-hippocampal-homeostasis-impairment
#13
M M Jukić, N Opel, J Ström, T Carrillo-Roa, S Miksys, M Novalen, A Renblom, S C Sim, E M Peñas-Lledó, P Courtet, A Llerena, B T Baune, D J de Quervain, A Papassotiropoulos, R F Tyndale, E B Binder, U Dannlowski, M Ingelman-Sundberg
The polymorphic CYP2C19 enzyme metabolizes psychoactive compounds and is expressed in the adult liver and fetal brain. Previously, we demonstrated that the absence of CYP2C19 is associated with lower levels of depressive symptoms in 1472 Swedes. Conversely, transgenic mice carrying the human CYP2C19 gene (2C19TG) have shown an anxious phenotype and decrease in hippocampal volume and adult neurogenesis. The aims of this study were to: (1) examine whether the 2C19TG findings could be translated to humans, (2) evaluate the usefulness of the 2C19TG strain as a tool for preclinical screening of new antidepressants and (3) provide an insight into the molecular underpinnings of the 2C19TG phenotype...
November 29, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27894353/provider-and-user-acceptability-of-intermittent-screening-and-treatment-for-the-control-of-malaria-in-pregnancy-in-malawi
#14
Deborah Almond, Mwayi Madanitsa, Victor Mwapasa, Linda Kalilani-Phiri, Jayne Webster, Feiko Ter Kuile, Lucy Paintain
BACKGROUND: Malaria in pregnancy is a major cause of adverse maternal and fetal outcomes. Intermittent preventive treatment with sulfadoxine-pyrimethamine (IPTp-SP) is one of the control strategies promoted by WHO. In response to mounting resistance to SP, intermittent screening and treatment (ISTp) has been proposed as an alternative. The objective of this study was to explore the acceptability of ISTp for health workers and pregnant women. METHODS: Semi-structured interviews of ten health workers and five focus group discussions of 38 women enrolled in an ongoing trial comparing IPTp-SP and ISTp with dihydroartemisinin-piperaquine (DP) were conducted at two antenatal clinics in rural Malawi...
November 28, 2016: Malaria Journal
https://www.readbyqxmd.com/read/27894129/isolated-fetal-ascites-neonatal-outcome-in-51-cases-observed-in-a-tertiary-referral-center
#15
Vincenzo Davide Catania, Alessia Muru, Marcella Pellegrino, Erika Adalgisa De Marco, Filomena Valentina Paradiso, Carlo Manzoni, Lorenzo Nanni, Lucia Masini
Introduction Prenatal detection of isolated ascites is a rare finding on ultrasound, usually suggestive of an underlying pathology that may negatively impact on the pregnancy and neonatal outcome. The purpose of the present study was to evaluate the outcome of primary isolated ascites in relation to gestational age (GA) at diagnosis. Materials and Methods Data were prospectively collected for fetuses with ascites that have been followed in our center of prenatal diagnosis and therapy from 2004 to 2014. Patients have been divided in group I when ascites was detected before the 24th week of GA and group II if it was noticed later...
November 28, 2016: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27891581/antigen-specificity-determines-anti-red-blood-cell-igg-fc-alloantibody-glycosylation-and-thereby-severity-of-haemolytic-disease-of-the-fetus-and-newborn
#16
Myrthe E Sonneveld, Joke Koelewijn, Masja de Haas, Jon Admiraal, Rosina Plomp, Carolien A M Koeleman, Agnes L Hipgrave Ederveen, Peter Ligthart, Manfred Wuhrer, C Ellen van der Schoot, Gestur Vidarsson
Haemolytic disease of the fetus and newborn (HDFN) is a severe disease in which fetal red blood cells (RBC) are destroyed by maternal anti-RBC IgG alloantibodies. HDFN is most often caused by anti-D but may also occur due to anti-K, -c- or -E. We recently found N-linked glycosylation of anti-D to be skewed towards low fucosylation, thereby increasing the affinity to IgG-Fc receptor IIIa and IIIb, which correlated with HDFN disease severity. Here, we analysed 230 pregnant women with anti-c, -E or -K alloantibodies from a prospective screening cohort and investigated the type of Fc-tail glycosylation of these antibodies in relation to the trigger of immunisation and pregnancy outcome...
November 28, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27888703/the-association-between-prenatal-atrioventricular-septal-defects-and-chromosomal-abnormalities
#17
Maddalena Morlando, Amarnath Bhide, Alessandra Familiari, Asma Khalil, José Morales-Roselló, Aris T Papageorghiou, Julene S Carvalho
OBJECTIVE: Atrioventricular septal defect is associated with a high risk of a chromosomal abnormality, particularly trisomy 21. The aim of this study is to assess the rate of trisomy 21 in fetuses diagnosed with an atrioventricular septal defect and to examine the influence of prior screening on the rate of trisomy 21. METHODS: Electronic ultrasound database was searched to identify fetuses diagnoses with an atrioventricular septal defect from 2002 to 2014. Rate of trisomy 21 and other aneuploidies was calculated among fetuses with normal situs...
October 29, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/27888318/toward-improving-the-fetal-diagnosis-of-coarctation-of-the-aorta
#18
Meaghan Beattie, Shabnam Peyvandi, Suguna Ganesan, Anita Moon-Grady
Coarctation of the aorta (CoA) is the most common ductal-dependent lesion missed on neonatal exam screening. Prenatal diagnosis of CoA improves outcomes through early initiation of prostaglandin. Fetal echocardiographic parameters including 2D and Doppler findings have been studied as predictive measures for fetal diagnosis of CoA, but diagnosis rates remain variable. A comprehensive set of predictor variables was applied to fetuses suspected of CoA to analyze which parameters were associated with postnatal CoA...
November 25, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27887921/non-invasive-prenatal-diagnosis-of-thalassemias-using-maternal-plasma-cell-free-dna
#19
REVIEW
Irena Hudecova, Rossa W K Chiu
Non-invasive prenatal testing (NIPT) using maternal plasma cell free DNA has already reshaped the existing prenatal care system for pregnancies screened for common chromosomal aneuploidies. On the other hand, much progress has been made in developing NIPT for monogenic diseases. Thalassemia served as a disease model to develop strategies for NIPT of monogenic traits. One approach focuses on the detection or exclusion of paternally inherited fetal mutations that are absent from the mother's genome. The assessment of maternally inherited mutations in maternal plasma requires the use of highly sensitive DNA quantification techniques...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27887753/effect-of-culturally-competent-educational-films-about-prenatal-screening-on-informed-decision-making-of-pregnant-women-in-the-netherlands
#20
I A Peters, A G Posthumus, J C I Y Reijerink-Verheij, H M E Van Agt, M F C M Knapen, S Denktaş
OBJECTIVE: To evaluate the effect of a culturally competent educational film (CCEF) on informed decision making (IDM) regarding prenatal screening (PS) in a study population consisting of multicultural pregnant women. METHODS: A cross-sectional study with 262 women in the control group and 117 in the intervention group. All counselled participants received a self-report questionnaire to obtain data on IDM and only the intervention group received the CCEF. Twenty two percent of the study population had an ethnic minority background and 52% had a low or medium educational level...
November 15, 2016: Patient Education and Counseling
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